title: [Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)].
abstract: Clinical, radiological and biochemical findings are described in a male newborn with type VII mucopolysaccharidosis (betaglucuronidase deficiency). A metabolic storage disease was likely at birth, because of morphological and radiological features and granulated cells in blood and bone marrow. A study of glycosaminoglycans has been performed in urine and various organs post mortem. Enzymatic deficiency was found in serum, leucocytes, skin fibroblasts, liver, spleen and kidneys. Low activities were present in both parents.
mesh_terms: D001842:Bone and Bones / Q000000981:diagnostic imaging; D005966:Glucuronidase / Q000032:analysis / Q000172:deficiency*; D006025:Glycosaminoglycans / Q000652:urine; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography
chemical_list: D006025:Glycosaminoglycans; D005966:Glucuronidase
vernacular_title: Mucopolysaccharidose de type VII à révélation néonatale.